Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene

Yunsong Jiang; Liani G Devito; Francesco Muntoni; Lyn Healy; Francesco Saverio Tedesco

doi:10.1016/j.scr.2024.103648

Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene

Stem Cell Res. 2024 Dec 30:83:103648. doi: 10.1016/j.scr.2024.103648. Online ahead of print.

Authors

Yunsong Jiang¹, Liani G Devito², Francesco Muntoni³, Lyn Healy⁴, Francesco Saverio Tedesco⁵

Affiliations

¹ Department of Cell and Developmental Biology, University College London, London WC1E 6DE, UK; Stem Cells and Neuromuscular Regeneration Laboratory, The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
² Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK.
³ Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.
⁴ Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK. Electronic address: lyn.healy@crick.ac.uk.
⁵ Department of Cell and Developmental Biology, University College London, London WC1E 6DE, UK; Stem Cells and Neuromuscular Regeneration Laboratory, The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK. Electronic address: f.s.tedesco@ucl.ac.uk.

PMID: 39764974
DOI: 10.1016/j.scr.2024.103648

Abstract

Ullrich congenital muscular dystrophy (UCMD) represents the most severe subtype of collagen VI-related dystrophies (COL6-RDs), a spectrum of rare extracellular matrix disorders affecting skeletal muscle and connective tissue. Here, we generated an induced pluripotent stem cell (iPSC) line (CRICKi021-A) from a UCMD patient with de novo dominant-negative mutation in COL6A1 gene by reprogramming dermal fibroblasts using a non-integrating mRNA-based protocol. The resulting human iPSCs displayed normal morphology, expressed pluripotency-associated markers and differentiated into the three germ layers. This new COL6A1-mutant iPSC line can be employed for disease modelling and for investigating potential therapies for COL6-RDs.